Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal consumption behavior (HP:0040202)

Parent Node:
Abnormal eating behavior (HP:0100738)

..Starting node
..Oral aversion (HP:0012523)

Term ID:

12523

Name:

Oral aversion

Synonym:

Definition:

Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).

Comments:

Reference:

HP:0012523

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bulimia (HP:0100739)

Choking episodes (HP:0030842)

Pica (HP:0011856)

Polyphagia (HP:0002591)

Salt craving (HP:0030083)

Sweet craving (HP:0030221)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012523	HP:0012523	Oral aversion	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional	91
HP:0012523	HP:0012523	Oral aversion	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0012523	HP:0012523	Oral aversion	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0012523	HP:0012523	Oral aversion	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0012523	HP:0012523	Oral aversion	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0012523	HP:0012523	Oral aversion	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0012523	HP:0012523	Oral aversion	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0012523	HP:0012523	Oral aversion	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040282 - Frequent	24
HP:0012523	HP:0012523	Oral aversion	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0012523	HP:0012523	Oral aversion	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0012523	HP:0012523	Oral aversion	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0012523	HP:0012523	Oral aversion	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0012523	HP:0012523	Oral aversion	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0012523	HP:0012523	Oral aversion	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0012523	HP:0012523	Oral aversion	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0012523	HP:0012523	Oral aversion	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional

Genes (16) :ACAT1 ARID1A ARID1B ARID2 DPF2 GRB10 MEIS2 PACS1 SLC7A7 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4

Diseases (6) :ORPHA:134 ORPHA:1465 ORPHA:96182 OMIM:600987 ORPHA:329224 ORPHA:470

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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